[Dementia and psychiatric disorders in Kufs disease].
Three patients with adult-onset neuronal-ceroid lipofuscinosis (Kufs' disease) are presented. Two cases were familial (autosomal recessive inheritance) and 1 case was possibly sporadic. The main clinical feature was progressive deterioration of cognitive functions. In 2 siblings, aged 37 and 41, dementia was associated with personality and behaviour changes, suggesting a psychotic disorder and with dysarthria and tic-like dyskinetic movements. In a third patient, dementia was only associated with an asymptomatic pigmentary retinal degeneration. CT scan revealed diffuse cerebral atrophy in all cases. Diagnosis was established by brain biopsy in 2 cases. Autofluorescence emission and absorption spectra from the abnormal pigment was studied and was not found contributive.
Charles
N
N
Clinique Neurologique, Hôpital Neurologique P. Wertheimer, Lyon.
Vighetto
A
A
Pialat
J
J
Confavreux
C
C
Aimard
G
G
D000328:Adult; D001921:Brain / Q000473:pathology; D003704:Dementia / Q000209:etiology; D005260:Female; D006801:Humans; D008297:Male; D001523:Mental Disorders / Q000209:etiology*; D008875:Middle Aged; D009472:Neuronal Ceroid-Lipofuscinoses / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D013050:Spectrometry, Fluorescence
Formes psychiatriques et démentielles de la maladie de Kufs.